A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575044



Internal ID16362453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:42275938..42276764hg38UCSC Ensembl
Innerchr17:40427956..40428782hg19UCSC Ensembl
Innerchr17:37681482..37682308hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38827
hg19827
hg18827
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv871848
Samples
Known GenesSTAT5B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575044
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer